Visit Metagene.de!
Summary
METHIONINE ADENOSYLTRANSFERASE I/III DEFICIENCY
MAT I/III DEFICIENCY HYPERMETHIONINEMIA, ISOLATED PERSISTENT
250850
OMIM = Online Medalian Inheritance of Men
168598
10q22.3

Detail information to gene locus by the National Center for Biotechnology Information NCBI:
  • diet
  • S-Adenosylmethionine (AdoMet)
rare
autosomal recessive
autosomal dominant
An important finding emerging from this study is that isolated persistent hypermethioninemia is not benign [Chamberlin et al. 1996] transient hypermethioninemia in infants fed a high-protein diet (Gaull 1977) and of unknown origin (Tsuchiyama 1982, Jhaveri 1982)
symptoms
Amino acids, plasma
Amino acids, urine
dystonia
hyperreflexia
mental retardation
myopathy
no clinical signs or symptoms
unusual odor / odour
laboratory finding
L-Methionine250.001300.0011.0030.00-Ámol/lplasma
L-Methionine 5.0029.00increasedurine
Methionine adenosyltransferase10.0020.00 100.00% of normalliver
MRI, brain, white matter abnormalities -
Homocysteine increasedplasma
Literature
Phillips III JAInherited defects in growth hormone synthesis and actionThe metabolic and molecular bases of inherited disease, 7/e Editors: C.R.Scriver, A.L.Beaudet, W.S.Sly, D.Valle McGraw-Hill Inc.203023-30441995
Ducluzeau PHet al.Depletion of mitochondrial DNA associated with infantile cholestasis and progressve liver fibrosisJ Hepatol300149-1551999
Bengtson P,et al.Serum transferrin carrying the xeno-tetrasaccharide NeuAc-Gal-GlcNAc2 is a biomarker of ALG1-CDGJ Inherit Metab Dis002015
Rohlfing AK,et al.ALG1-CDG: a new case with early fatal outcomeGene5342345-3512014
Gennip AHAbeling NGGM, Stromer AEM, Overmars H, Bakker HDThe Detection of Molybdenum Cofactor Deficiency: Clinical Symptomatology and Urinary Matabolite ProfileJ Inherit Metab Dis170142-1451994
Gennip AHAbeling NGGM, Stromer AEM, Overmars H, Bakker HDThe Detection of Molybdenum Cofactor Deficiency: Clinical Symptomatology and Urinary Matabolite ProfileJ Inherit Metab Dis170142-1451994
Gennip AHAbeling NGGM, Stromer AEM, Overmars H, Bakker HDThe Detection of Molybdenum Cofactor Deficiency: Clinical Symptomatology and Urinary Matabolite ProfileJ Inherit Metab Dis170142-1451994
Lazarow PBMoser HWDisorders of peroxisome biogenesisThe metabolic and molecular bases of inherited disease, 7/e Editors: C.R.Scriver, A.L.Beaudet, W.S.Sly, D.Valle McGraw-Hill Inc.2712287-23241995
Hoffmann GFDie Mevalonazidurie - eine Stoffwechselerkrankung der Cholesterin- und IsoprenoidbiosyntheseThieme Verlag Stuttgart New York001994
Taanman JWet al.Molecular mechanism in mitochondrial DNA depletion syndromeHum Mol Genet60935-9421997
Rasmussen Met al.Evidence that Alpers-Huttenlocher syndrome could be a mitochondrial diseaseJ Child Neurol157473-4772000
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
Hykollari A,et al.Mass spectrometric analysis of neutral and anionic N-glycans from a Dictyostelium discoideum model for human congenital disorder of glycosylation CDG ILJ Proteome Res1231173-11872013
Morris AAet al.Liver failure associated with mitochondrial DNA depletionJ Hepatol280556-5631998